Niemann-Pick Type C disease (NPC) is an autosomal recessive lysosomal storage disorder characterized by progressive neurological deterioration. Currently, there are no effective treatments for NPC, although miglustat has shown some effectiveness in stabilizing neurological status in juvenile-onset NPC patients. Recent studies have demonstrated the efficacy of hydroxypropyl-β-cyclodextrin (HPB-CD) in NPC mice. Herein, we describe the effects of HPB-CD in two patients with NPC. The two patients received HPB-CD infusions twice (Patient 2) or thrice (Patient 1) weekly, starting with a dose of 80 mg/kg per dose that was increased gradually to 2g/kg per dose (Patient 2) or 2.5 g/kg per dose (Patient 1). Although HPB-CD did not improve the neurological deficits in either patient, it was partially effective in improving hepatosplenomegaly and central nervous system dysfunction, especially during the first 6 months of treatment. No adverse effects were observed over the course of treatment, although Patient 1 exhibited transient cloudiness of the lungs with fever after 2 years. For more effective treatment of NPC patients with HPB-CD, it is necessary to improve drug delivery into the central nervous system.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.ymgme.2012.11.005 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Improved Efficacy of a Predictive Model for Swallowing-Induced Breakthrough Pain Based on a Redefined Delineation Method in Locally Advanced Nasopharyngeal Carcinoma.
Adv Radiat Oncol
February 2025
Department of Radiation Oncology, Nanfang Hospital, Southern Medical University, Guangzhou, China.
Purpose: The objective of this study was to explore the performance of a predictive model for swallowing-induced breakthrough pain established using a redefined delineation method based on the common occurrence sites of radiation-induced oral mucositis (RIOM) in locally advanced nasopharyngeal carcinoma (NPC).
Methods And Materials: A total of 208 patients with locally advanced NPC were included in the study cohort, and the test cohort consisted of 88 patients. The oral mucosa structure was contoured using oral cavity contour (OCC), mucosal surface contour (MSC), and oral-pharyngeal mucosa (OPM) methods, and relevant dosimetric parameters were collected.
Deep learning based analysis of G3BP1 protein expression to predict the prognosis of nasopharyngeal carcinoma.
PLoS One
January 2025
Department of Pathology, the Second Xiangya Hospital, Central South University, Changsha, Hunan, China.
Background: Ras-GTPase-activating protein (GAP)-binding protein 1 (G3BP1) emerges as a pivotal oncogenic gene across various malignancies, notably including nasopharyngeal carcinoma (NPC). The use of automated image analysis tools for immunohistochemical (IHC) staining of particular proteins is highly beneficial, as it could reduce the burden on pathologists. Interestingly, there have been no prior studies that have examined G3BP1 IHC staining using digital pathology.
View Article and Find Full Text PDFVolume-Outcome Relationship of Norwood Procedures: Insights from the National Pediatric Cardiology - Quality Improvement Collaborative Database.
Ann Thorac Surg
January 2025
Division of Cardiothoracic Surgery, University of Utah Health, Salt Lake City, UT. Electronic address:
Background: Prior investigations of the center-specific case volume on outcomes in hypoplastic left heart syndrome have conflicting results. This study utilized the National Pediatric Cardiology Quality Improvement Collaborative (NPC-QIC) registry to investigate the center volume-outcome relationship in patients following the Norwood procedure with consideration of pre-operative high-risk features.
Methods: Between 2016 and 2023, centers were categorized by Norwood procedure volume into low (≤ 5 cases/year), medium (6 to 10 cases/year), and high-volume centers (> 10 cases/year).
Delineation of reduced CTV2 on the basis of the characteristics and distribution of cervical lymph node metastasis in nasopharyngeal carcinoma.
BMC Cancer
January 2025
Department of Radiation Oncology, First Affiliated Hospital of Kunming Medical University, 295 Xichang Road, Kunming, 650032, P. R. China.
Introduction: The core objective of this study was to precisely locate metastatic lymph nodes, identify potential areas in nasopharyngeal carcinoma patients that may not require radiotherapy, and propose a hypothesis for reduced target volume radiotherapy on the basis of these findings. Ultimately, we reassessed the differences in dosimetry of organs at risk (OARs) between reduced target volume (reduced CTV2) radiotherapy and standard radiotherapy.
Methods And Materials: A total of 209 patients participated in the study.
Prediction of immunotherapy response in nasopharyngeal carcinoma: a comparative study using MRI-based radiomics signature and programmed cell death ligand 1 expression score.
Eur Radiol
January 2025
Department of Medical Imaging, Guangzhou Institute of Cancer Research, The Affiliated Cancer Hospital, Guangzhou Medical University, Guangzhou, China.
Objectives: To compare an MRI-based radiomics signature with the programmed cell death ligand 1 (PD-L1) expression score for predicting immunotherapy response in nasopharyngeal carcinoma (NPC).
Methods: Consecutive patients with NPC who received immunotherapy between January 2019 and June 2022 were divided into training (n = 111) and validation (n = 66) sets. Tumor radiomics features were extracted from pretreatment MR images.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!